A9P (p.Ala9Pro) variant of PCCA (P05165)
A9P (p.Ala9Pro) 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.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD 13-100089145-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 10.10
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available