A2S (p.Ala2Ser) variant of PCCA (P05165)
A2S (p.Ala2Ser) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 13-100089124-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available