V80M (p.Val80Met) variant of SLC8A1 (Sodium/calcium exchanger 1)
V80M (p.Val80Met) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V80M (p.Val80Met) variant details
- p.Val80Met
- gnomAD rs1441415024
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.36
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available