V9L (p.Val9Leu) variant of SPTA1 (P02549)
V9L (p.Val9Leu) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs111321033
- ClinGen CA343026972
- ClinVar RCV002227318
- 1000Genomes rs111321033
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)