R19W (p.Arg19Trp) variant of PCCA (P05165)
R19W (p.Arg19Trp) in PCCA (P05165) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R19W (p.Arg19Trp) variant details
- p.Arg19Trp
- rs748401260
- ExAC rs748401260
- gnomAD rs748401260
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.70
- PolyPhen-2 0.82
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available