S34C (p.Ser34Cys) variant of PCCB (P05166)
S34C (p.Ser34Cys) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S34C (p.Ser34Cys) variant details
- p.Ser34Cys
- gnomAD 3-136250476-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.44
- ESM-1b 0.05
- AlphaMissense 0.13
- CADD 23.50
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available