R16Q (p.Arg16Gln) variant of PCCA (P05165)
R16Q (p.Arg16Gln) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs999936193
- gnomAD 13-100089139-G-GG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 22.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available