E20A (p.Glu20Ala) variant of CHM (P24386)
E20A (p.Glu20Ala) in CHM (P24386) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Choroideremia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E20A (p.Glu20Ala) variant details
- p.Glu20Ala
- TOPMed rs1933880766
- Uncertain significance
- Choroideremia
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.73
- MetaLR 0.40
- MetaSVM -0.13
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Choroideremia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available