P10R (p.Pro10Arg) variant of PCCA (P05165)
P10R (p.Pro10Arg) 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.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- gnomAD 13-100089149-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 11.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available