N17S (p.Asn17Ser) variant of CNGA1 (P29973)
N17S (p.Asn17Ser) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- ExAC rs768157440
- gnomAD rs768157440
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.03
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available