P18A (p.Pro18Ala) variant of MSH3 (DNA mismatch repair protein Msh3)
P18A (p.Pro18Ala) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- gnomAD 5-80654779-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.14
- CADD 9.98
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available