M61I (p.Met61Ile) variant of MLH3 (DNA mismatch repair protein Mlh3)
M61I (p.Met61Ile) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
M61I (p.Met61Ile) variant details
- p.Met61Ile
- rs2139611827
- ClinGen CA390451401
- ClinVar RCV004521138
- ClinVar RCV005100764
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.25
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)