D77E (p.Asp77Glu) variant of CHM (P24386)
D77E (p.Asp77Glu) in CHM (P24386) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D77E (p.Asp77Glu) variant details
- p.Asp77Glu
- rs1272374695
- gnomAD rs1272374695
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0989
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -0.95
- CADD 2.24
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available