G58R (p.Gly58Arg) variant of PMS1 (PMS1 protein homolog 1)
G58R (p.Gly58Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- rs772427166
- NCI-TCGA Cosmic COSV5971
- cosmic curated COSV59715
- ExAC rs772427166
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.99
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.267