A20V (p.Ala20Val) variant of MSH6 (DNA mismatch repair protein Msh6)
A20V (p.Ala20Val) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in LYNCH5, CRC and ENDMC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs63750664
- ClinGen CA015946
- cosmic curated COSV10586
- ClinVar RCV000075009
- Benign
- in LYNCH5, CRC and ENDMC
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.49
- MetaLR 0.35
- MetaSVM -0.77
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.25
- EBI: Benign (in LYNCH5, CRC and ENDMC)
- UniProt: Benign (in LYNCH5, CRC and ENDMC)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium? (PMID 11153917)
- Cited in: A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. (PMID 22102614)