Q23R (p.Gln23Arg) variant of PCCA (P05165)
Q23R (p.Gln23Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- gnomAD 13-100089188-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available