A21P (p.Ala21Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
A21P (p.Ala21Pro) 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 Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- rs2080897397
- ClinGen CA352060832
- ClinVar RCV002016807
- Ensembl rs2080897397
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely pathogenic (in LYNCH2)
- Structural context available