N38K (p.Asn38Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
N38K (p.Asn38Lys) 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 0.99 / 1. The record also includes published literature and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- rs267607706
- ClinGen CA352061243
- ClinVar RCV000680195
- ClinVar RCV003758909
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.97
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- 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)