S29F (p.Ser29Phe) variant of OTOF (Otoferlin)
S29F (p.Ser29Phe) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- Ensembl rs1310213812
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.44
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available