A29S (p.Ala29Ser) variant of PCCA (P05165)
A29S (p.Ala29Ser) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- ExAC rs771037080
- TOPMed rs771037080
- gnomAD rs771037080
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available