F50C (p.Phe50Cys) variant of MLH3 (DNA mismatch repair protein Mlh3)
F50C (p.Phe50Cys) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F50C (p.Phe50Cys) variant details
- p.Phe50Cys
- ESP rs148409389
- ExAC rs148409389
- TOPMed rs148409389
- gnomAD rs148409389
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available