V4M (p.Val4Met) variant of KCNJ2 (P63252)
V4M (p.Val4Met) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V4M (p.Val4Met) variant details
- p.Val4Met
- ExAC rs756248184
- gnomAD rs756248184
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.19
- MetaLR 0.13
- MetaSVM -1.08
- CADD 24.10
- PolyPhen-2 0.69
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available