Q10K (p.Gln10Lys) variant of PURA (Q00577)
Q10K (p.Gln10Lys) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q10K (p.Gln10Lys) variant details
- p.Gln10Lys
- gnomAD 5-140114209-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available