M47I (p.Met47Ile) variant of MLH3 (DNA mismatch repair protein Mlh3)
M47I (p.Met47Ile) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M47I (p.Met47Ile) variant details
- p.Met47Ile
- rs2139612633
- ClinGen CA390451496
- ClinVar RCV003774321
- ClinVar RCV004057232
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.13
- CADD 21.50
- PolyPhen-2 0.15
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)