R16W (p.Arg16Trp) variant of PCCA (P05165)
R16W (p.Arg16Trp) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- TOPMed rs1374827963
- gnomAD rs1374827963
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available