D113E (p.Asp113Glu) variant of CNGA1 (P29973)
D113E (p.Asp113Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D113E (p.Asp113Glu) variant details
- p.Asp113Glu
- TOPMed rs1271366557
- gnomAD rs1271366557
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.03
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available