T8A (p.Thr8Ala) variant of PCCA (P05165)
T8A (p.Thr8Ala) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- gnomAD 13-100089142-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 4.93
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available