A14T (p.Ala14Thr) variant of PCCA (P05165)
A14T (p.Ala14Thr) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- Ensembl rs2046029191
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available