R14C (p.Arg14Cys) variant of MLH3 (DNA mismatch repair protein Mlh3)
R14C (p.Arg14Cys) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs1892532093
- ClinGen CA390451877
- cosmic curated COSV53135
- ClinVar RCV004051328
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.84
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)