E37A (p.Glu37Ala) variant of PCCB (P05166)
E37A (p.Glu37Ala) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E37A (p.Glu37Ala) variant details
- p.Glu37Ala
- rs1051773363
- gnomAD 3-136251291-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 6.22
- Most common in the African/African-American population (allele frequency 0.0007)
- Structural context available
- Literature evidence available