F50L (p.Phe50Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
F50L (p.Phe50Leu) 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 and structural context.
F50L (p.Phe50Leu) variant details
- p.Phe50Leu
- rs1892522031
- NCI-TCGA Cosmic COSV9946
- cosmic curated COSV99465
- gnomAD rs1892522031
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.31
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available