L17V (p.Leu17Val) variant of MLH3 (DNA mismatch repair protein Mlh3)
L17V (p.Leu17Val) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- rs773049883
- ClinGen CA7276099
- ClinVar RCV004521251
- ClinVar RCV005100767
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.21
- CADD 9.73
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)