F30Y (p.Phe30Tyr) variant of KCNJ2 (P63252)
F30Y (p.Phe30Tyr) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F30Y (p.Phe30Tyr) variant details
- p.Phe30Tyr
- gnomAD 17-70175128-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.03
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available