N53D (p.Asn53Asp) variant of CNGA1 (P29973)
N53D (p.Asn53Asp) in CNGA1 (P29973) is a missense change. 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.
N53D (p.Asn53Asp) variant details
- p.Asn53Asp
- Ensembl rs2110157850
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.04
- CADD 9.47
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available