S247P (p.Ser247Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
S247P (p.Ser247Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S247P (p.Ser247Pro) variant details
- p.Ser247Pro
- rs63750948
- ClinGen CA011855
- ClinVar RCV000075833
- ClinVar RCV000629770
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.94
- CADD 27.70
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic… (PMID 12200596)
- Cited in: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (PMID 16083711)