F80V (p.Phe80Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
F80V (p.Phe80Val) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F80V (p.Phe80Val) variant details
- p.Phe80Val
- rs63749990
- ClinGen CA009371
- ClinVar RCV000075601
- ClinVar RCV001091798
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary… (PMID 11726306)
- Cited in: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (PMID 16083711)