R19L (p.Arg19Leu) variant of PCCA (P05165)
R19L (p.Arg19Leu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- 1000Genomes rs2152189747
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 17.30
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available