T8K (p.Thr8Lys) variant of PCCA (P05165)
T8K (p.Thr8Lys) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T8K (p.Thr8Lys) variant details
- p.Thr8Lys
- gnomAD 13-100089143-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available