S44F (p.Ser44Phe) variant of MLH1 (DNA mismatch repair protein Mlh1)
S44F (p.Ser44Phe) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S44F (p.Ser44Phe) variant details
- p.Ser44Phe
- rs2125710774
- ClinGen CA2499216670
- ClinVar RCV001354327
- ClinVar RCV002384494
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. (PMID 20020535)
- Cited in: Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. (PMID 22753075)