R16L (p.Arg16Leu) variant of PCCA (P05165)
R16L (p.Arg16Leu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- ExAC rs749734283
- gnomAD rs749734283
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available