A30A (p.Ala30Ala) variant of PCCA (P05165)
A30A (p.Ala30Ala) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs776449255
- gnomAD 13-100089210-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 13.00
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available