S27R (p.Ser27Arg) variant of PCCB (P05166)
S27R (p.Ser27Arg) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD 3-136250456-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 7.24
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available