Q24R (p.Gln24Arg) variant of PCCA (P05165)
Q24R (p.Gln24Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD 13-100089191-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 11.90
- PolyPhen-2 0.04
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available