C29S (p.Cys29Ser) variant of PCCB (P05166)
C29S (p.Cys29Ser) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C29S (p.Cys29Ser) variant details
- p.Cys29Ser
- gnomAD 3-136250461-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available