E40K (p.Glu40Lys) variant of PCCB (P05166)
E40K (p.Glu40Lys) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- cosmic curated COSV52447
- gnomAD rs1469031248
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available