P30Q (p.Pro30Gln) variant of MSH2 (DNA mismatch repair protein Msh2)
P30Q (p.Pro30Gln) in MSH2 (DNA mismatch repair protein Msh2) 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 0.78 / 1. The record also includes population frequency data and structural context.
P30Q (p.Pro30Gln) variant details
- p.Pro30Gln
- ExAC rs757892928
- gnomAD rs757892928
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.82
- MetaSVM 0.64
- CADD 25.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available