A29R (p.Ala29Arg) variant of PCCA (P05165)
A29R (p.Ala29Arg) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A29R (p.Ala29Arg) variant details
- p.Ala29Arg
- rs1184927944
- gnomAD 13-100089204-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 23.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available