G3R (p.Gly3Arg) variant of PCCA (P05165)
G3R (p.Gly3Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- gnomAD 13-100089127-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available