W5S (p.Trp5Ser) variant of PCCA (P05165)
W5S (p.Trp5Ser) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
W5S (p.Trp5Ser) variant details
- p.Trp5Ser
- gnomAD 13-100089134-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.40
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available