A14S (p.Ala14Ser) variant of PCCA (P05165)
A14S (p.Ala14Ser) 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, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 13-100089160-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.70
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available