L9I (p.Leu9Ile) variant of SLC8A1 (Sodium/calcium exchanger 1)
L9I (p.Leu9Ile) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L9I (p.Leu9Ile) variant details
- p.Leu9Ile
- rs773071951
- NCI-TCGA Cosmic COSV6047
- cosmic curated COSV60474
- ExAC rs773071951
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.08
- CADD 14.00
- PolyPhen-2 0.04
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available