F10S (p.Phe10Ser) variant of SLC12A1 (Q13621)
F10S (p.Phe10Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
F10S (p.Phe10Ser) variant details
- p.Phe10Ser
- gnomAD rs1286870736
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.50
- MetaLR 0.65
- MetaSVM 0.30
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available