G22V (p.Gly22Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
G22V (p.Gly22Val) 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 cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- rs41295280
- ClinGen CA352060856
- ClinVar RCV001212800
- ESP rs41295280
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.74
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Benign (in dbSNP:rs41295280)
- UniProt: Benign (in dbSNP:rs41295280)
- Structural context available