A30T (p.Ala30Thr) variant of PCCA (P05165)
A30T (p.Ala30Thr) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD 13-100089208-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.80
- PolyPhen-2 0.10
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available