R72G (p.Arg72Gly) variant of MLH3 (DNA mismatch repair protein Mlh3)
R72G (p.Arg72Gly) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- rs370545907
- ClinGen CA390451332
- ClinVar RCV003101086
- ClinVar RCV004599382
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.43
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)