I5N (p.Ile5Asn) variant of CNGA1 (P29973)
I5N (p.Ile5Asn) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- gnomAD rs1259820486
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available