A2T (p.Ala2Thr) variant of PCCB (P05166)
A2T (p.Ala2Thr) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- Ensembl rs1941474133
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.55
- ESM-1b 0.51
- AlphaMissense 0.18
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available