A120T (p.Ala120Thr) variant of OTOF (Otoferlin)
A120T (p.Ala120Thr) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A120T (p.Ala120Thr) variant details
- p.Ala120Thr
- gnomAD rs1421216292
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.11
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available