M61L (p.Met61Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
M61L (p.Met61Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
M61L (p.Met61Leu) variant details
- p.Met61Leu
- rs2503335168
- ClinGen CA390451405
- ClinVar RCV004059370
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.50
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available