S55G (p.Ser55Gly) variant of OTOF (Otoferlin)
S55G (p.Ser55Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S55G (p.Ser55Gly) variant details
- p.Ser55Gly
- ExAC rs749507265
- gnomAD rs749507265
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.11
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available