S30R (p.Ser30Arg) variant of PCCB (P05166)
S30R (p.Ser30Arg) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- gnomAD 3-136250465-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 21.90
- PolyPhen-2 0.11
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available