R17L (p.Arg17Leu) variant of PCCA (P05165)
R17L (p.Arg17Leu) in PCCA (P05165) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- ExAC rs768914819
- TOPMed rs768914819
- gnomAD rs768914819
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 17.10
- PolyPhen-2 0.09
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.3e-05)
- Structural context available