R26H (p.Arg26His) variant of PCCB (P05166)
R26H (p.Arg26His) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R26H (p.Arg26His) variant details
- p.Arg26His
- gnomAD 3-136250452-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.51
- ESM-1b 0.76
- AlphaMissense 0.15
- CADD 24.10
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available