S37F (p.Ser37Phe) variant of KCNJ11 (Q14654)
S37F (p.Ser37Phe) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- gnomAD 11-17387982-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.46
- CADD 24.30
- PolyPhen-2 0.57
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available