Q67H (p.Gln67His) variant of SLC8A1 (Sodium/calcium exchanger 1)
Q67H (p.Gln67His) 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 0.32 / 1. The record also includes population frequency data and structural context.
Q67H (p.Gln67His) variant details
- p.Gln67His
- cosmic curated COSV60480
- NCI-TCGA Cosmic COSV6048
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.11
- CADD 16.50
- PolyPhen-2 0.98
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available