V17I (p.Val17Ile) variant of KCNJ5 (P48544)
V17I (p.Val17Ile) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- cosmic curated COSV10816
- TOPMed rs1464840832
- gnomAD rs1464840832
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- MetaLR 0.54
- MetaSVM -0.75
- CADD 16.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available