F50Y (p.Phe50Tyr) variant of MLH3 (DNA mismatch repair protein Mlh3)
F50Y (p.Phe50Tyr) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F50Y (p.Phe50Tyr) variant details
- p.Phe50Tyr
- rs148409389
- ClinGen CA7276086
- ClinVar RCV000382973
- ClinVar RCV000415369
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)