N3S (p.Asn3Ser) variant of CNGA1 (P29973)
N3S (p.Asn3Ser) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- rs866375716
- ClinGen CA356836809
- ClinVar RCV003045152
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- AlphaMissense 0.15
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available