T33A (p.Thr33Ala) variant of PCCA (P05165)
T33A (p.Thr33Ala) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T33A (p.Thr33Ala) variant details
- p.Thr33Ala
- gnomAD 13-100089217-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available