V81A (p.Val81Ala) variant of MLH3 (DNA mismatch repair protein Mlh3)
V81A (p.Val81Ala) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V81A (p.Val81Ala) variant details
- p.Val81Ala
- rs907606500
- ClinGen CA263654001
- ClinVar RCV003615265
- Ensembl rs907606500
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.26
- AlphaMissense 0.20
- MetaLR 0.55
- MetaSVM -0.24
- CADD 23.10
- PolyPhen-2 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)