N120D (p.Asn120Asp) variant of CNGA1 (P29973)
N120D (p.Asn120Asp) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
N120D (p.Asn120Asp) variant details
- p.Asn120Asp
- Ensembl rs2110142050
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available