P21T (p.Pro21Thr) variant of PCCA (P05165)
P21T (p.Pro21Thr) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- gnomAD 13-100089181-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available