R38H (p.Arg38His) variant of PCCB (P05166)
R38H (p.Arg38His) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- cosmic curated COSV52448
- gnomAD rs1488190326
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.64
- ESM-1b 0.45
- AlphaMissense 0.11
- CADD 25.40
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available