R14H (p.Arg14His) variant of MLH3 (DNA mismatch repair protein Mlh3)
R14H (p.Arg14His) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- rs760072474
- ClinGen CA7276100
- NCI-TCGA Cosmic COSV5313
- cosmic curated COSV53134
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.91
- AlphaMissense 0.30
- MetaLR 0.87
- MetaSVM 0.91
- CADD 25.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)