S72F (p.Ser72Phe) variant of KCNJ10 (P78508)
S72F (p.Ser72Phe) in KCNJ10 (P78508) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
S72F (p.Ser72Phe) variant details
- p.Ser72Phe
- ExAC rs746513174
- gnomAD rs746513174
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.17
- Population evidence available