R22H (p.Arg22His) variant of PCCB (P05166)
R22H (p.Arg22His) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R22H (p.Arg22His) variant details
- p.Arg22His
- Ensembl rs1010218920
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.33
- ESM-1b 0.14
- AlphaMissense 0.19
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available