R32Q (p.Arg32Gln) variant of PCCA (P05165)
R32Q (p.Arg32Gln) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- TOPMed rs1221651061
- gnomAD rs1221651061
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available