R16P (p.Arg16Pro) variant of PCCA (P05165)
R16P (p.Arg16Pro) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- gnomAD 13-100089167-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available