V21L (p.Val21Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
V21L (p.Val21Leu) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- TOPMed rs1697940400
- gnomAD rs1697940400
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.03
- CADD 7.50
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available