N17H (p.Asn17His) variant of CNGA1 (P29973)
N17H (p.Asn17His) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N17H (p.Asn17His) variant details
- p.Asn17His
- ExAC rs774780336
- TOPMed rs774780336
- gnomAD rs774780336
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.03
- CADD 22.30
- PolyPhen-2 0.20
- SIFT 0.76
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available