S25G (p.Ser25Gly) variant of MSH3 (DNA mismatch repair protein Msh3)
S25G (p.Ser25Gly) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S25G (p.Ser25Gly) variant details
- p.Ser25Gly
- rs746455200
- ClinGen CA3327427
- ClinVar RCV001995173
- ExAC rs746455200
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.55
- CADD 27.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available