V43I (p.Val43Ile) variant of MLH3 (DNA mismatch repair protein Mlh3)
V43I (p.Val43Ile) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V43I (p.Val43Ile) variant details
- p.Val43Ile
- rs554073121
- ClinGen CA7276091
- ClinVar RCV001224621
- ExAC rs554073121
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.24
- CADD 15.30
- PolyPhen-2 0.12
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)