D98N (p.Asp98Asn) variant of OTOF (Otoferlin)
D98N (p.Asp98Asn) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D98N (p.Asp98Asn) variant details
- p.Asp98Asn
- Ensembl rs2148102467
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.28
- CADD 25.30
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available