I60F (p.Ile60Phe) variant of SLC12A1 (Q13621)
I60F (p.Ile60Phe) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I60F (p.Ile60Phe) variant details
- p.Ile60Phe
- ExAC rs757961565
- gnomAD rs757961565
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.30
- MetaLR 0.48
- MetaSVM -0.48
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available