P72L (p.Pro72Leu) variant of CNGA1 (P29973)
P72L (p.Pro72Leu) 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.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs1369941342
- ClinGen CA356834946
- ClinVar RCV001990390
- gnomAD rs1369941342
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available