K24Q (p.Lys24Gln) variant of WRN (Q14191)
K24Q (p.Lys24Gln) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
K24Q (p.Lys24Gln) variant details
- p.Lys24Gln
- gnomAD 8-31058517-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0653
- REVEL 0.03
- CADD 6.76
- PolyPhen-2 0.03
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available