T14I (p.Thr14Ile) variant of CNGA1 (P29973)
T14I (p.Thr14Ile) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- TOPMed rs1458520292
- gnomAD rs1458520292
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.01
- CADD 6.76
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available