V69A (p.Val69Ala) variant of MLH3 (DNA mismatch repair protein Mlh3)
V69A (p.Val69Ala) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V69A (p.Val69Ala) variant details
- p.Val69Ala
- rs886050779
- ClinGen CA10644939
- ClinVar RCV000325990
- ClinVar RCV004824053
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.59
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)