V9I (p.Val9Ile) variant of SPTA1 (P02549)
V9I (p.Val9Ile) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- 1000Genomes rs111321033
- ESP rs111321033
- ExAC rs111321033
- TOPMed rs111321033
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)