S30I (p.Ser30Ile) variant of PCCB (P05166)
S30I (p.Ser30Ile) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S30I (p.Ser30Ile) variant details
- p.Ser30Ile
- gnomAD 3-136250464-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available