Q24K (p.Gln24Lys) variant of PCCA (P05165)
Q24K (p.Gln24Lys) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q24K (p.Gln24Lys) variant details
- p.Gln24Lys
- gnomAD 13-100089190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available