W5L (p.Trp5Leu) variant of PCCA (P05165)
W5L (p.Trp5Leu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
W5L (p.Trp5Leu) variant details
- p.Trp5Leu
- gnomAD 13-100089134-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available