P72S (p.Pro72Ser) variant of CNGA1 (P29973)
P72S (p.Pro72Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- TOPMed rs1315086330
- gnomAD rs1315086330
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.05
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available