V26F (p.Val26Phe) variant of MLH3 (DNA mismatch repair protein Mlh3)
V26F (p.Val26Phe) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V26F (p.Val26Phe) variant details
- p.Val26Phe
- rs964651295
- ClinGen CA263654175
- ClinVar RCV001341838
- ClinVar RCV004035974
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.76
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)