A20P (p.Ala20Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
A20P (p.Ala20Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs1553637262
- ClinGen CA352060807
- ClinVar RCV001937340
- Ensembl rs1553637262
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available