P10T (p.Pro10Thr) variant of PCCA (P05165)
P10T (p.Pro10Thr) 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 and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- Ensembl rs868782658
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 3.25
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available