P72T (p.Pro72Thr) variant of CNGA1 (P29973)
P72T (p.Pro72Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
P72T (p.Pro72Thr) variant details
- p.Pro72Thr
- rs1315086330
- ClinGen CA356834955
- ClinVar RCV001306296
- TOPMed rs1315086330
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.02
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available