G62R (p.Gly62Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
G62R (p.Gly62Arg) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G62R (p.Gly62Arg) variant details
- p.Gly62Arg
- rs761501352
- ClinGen CA7276081
- ClinVar RCV000559273
- ClinVar RCV003935562
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.78
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-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)