V9I (p.Val9Ile) variant of SLC12A1 (Q13621)
V9I (p.Val9Ile) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- TOPMed rs1352768200
- gnomAD rs1352768200
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.19
- MetaLR 0.47
- MetaSVM -0.57
- CADD 5.08
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available