T9A (p.Thr9Ala) variant of OTOF (Otoferlin)
T9A (p.Thr9Ala) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- cosmic curated COSV55512
- ExAC rs764457788
- TOPMed rs764457788
- gnomAD rs764457788
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.24
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available