D114Y (p.Asp114Tyr) variant of CNGA1 (P29973)
D114Y (p.Asp114Tyr) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D114Y (p.Asp114Tyr) variant details
- p.Asp114Tyr
- 1000Genomes rs28642966
- ESP rs28642966
- ExAC rs28642966
- TOPMed rs28642966
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.10
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.95
- CADD 17.60
- PolyPhen-2 0.00
- EBI: Benign (in dbSNP:rs28642966)
- UniProt: Benign (in dbSNP:rs28642966)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available