E76A (p.Glu76Ala) variant of CNGA1 (P29973)
E76A (p.Glu76Ala) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E76A (p.Glu76Ala) variant details
- p.Glu76Ala
- rs898266295
- ClinGen CA96698369
- ClinVar RCV001240425
- TOPMed rs898266295
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available