V15I (p.Val15Ile) variant of ATP1A1 (P05023)
V15I (p.Val15Ile) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V15I (p.Val15Ile) variant details
- p.Val15Ile
- Ensembl rs1651915565
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.26
- MetaLR 0.42
- MetaSVM -0.39
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available