V23I (p.Val23Ile) variant of SLC12A1 (Q13621)
V23I (p.Val23Ile) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- gnomAD rs1159731549
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.46
- MetaLR 0.74
- MetaSVM 0.75
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available