R19Q (p.Arg19Gln) variant of PCCA (P05165)
R19Q (p.Arg19Gln) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- gnomAD 13-100089176-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 14.40
- PolyPhen-2 0.24
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available