A42T (p.Ala42Thr) variant of OTOF (Otoferlin)
A42T (p.Ala42Thr) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- gnomAD rs868651321
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.17
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available