D42N (p.Asp42Asn) variant of CNGA1 (P29973)
D42N (p.Asp42Asn) 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.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- TOPMed rs1401884636
- gnomAD rs1401884636
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.02
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available