G22A (p.Gly22Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
G22A (p.Gly22Ala) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- rs41295280
- ClinGen CA011425
- ClinVar RCV000075796
- ClinVar RCV000115484
- Benign
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Benign (Lynch syndrome)
- EBI: Benign (in dbSNP:rs41295280)
- UniProt: Benign (in dbSNP:rs41295280)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal… (PMID 18033691)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)