A2T (p.Ala2Thr) variant of OTOF (Otoferlin)
A2T (p.Ala2Thr) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- cosmic curated COSV55517
- Ensembl rs2148144262
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.51
- CADD 23.70
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available