Q21K (p.Gln21Lys) variant of MSH3 (DNA mismatch repair protein Msh3)
Q21K (p.Gln21Lys) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- gnomAD 5-80654788-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.38
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available