F21S (p.Phe21Ser) variant of SLC12A1 (Q13621)
F21S (p.Phe21Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
F21S (p.Phe21Ser) variant details
- p.Phe21Ser
- TOPMed rs1455832531
- gnomAD rs1455832531
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.69
- MetaLR 0.76
- MetaSVM 0.78
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available