F30L (p.Phe30Leu) variant of KCNJ2 (P63252)
F30L (p.Phe30Leu) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- gnomAD 17-70175129-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -1.03
- CADD 17.60
- PolyPhen-2 0.15
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available