P6R (p.Pro6Arg) variant of MSH3 (DNA mismatch repair protein Msh3)
P6R (p.Pro6Arg) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- gnomAD 5-80654744-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.20
- CADD 17.10
- PolyPhen-2 0.21
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available