Q31H (p.Gln31His) variant of PCCB (P05166)
Q31H (p.Gln31His) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q31H (p.Gln31His) variant details
- p.Gln31His
- TOPMed rs966385891
- gnomAD rs966385891
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available