D121N (p.Asp121Asn) variant of CNGA1 (P29973)
D121N (p.Asp121Asn) 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 0.30 / 1. The record also includes structural context.
D121N (p.Asp121Asn) variant details
- p.Asp121Asn
- rs1213631101
- ClinGen CA356832305
- cosmic curated COSV62052
- ClinVar RCV001908596
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.01
- PolyPhen-2 0.14
- SIFT 0.15
- MutPred 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available