Q24K (p.Gln24Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
Q24K (p.Gln24Lys) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q24K (p.Gln24Lys) variant details
- p.Gln24Lys
- gnomAD 2-47403261-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available