F21Y (p.Phe21Tyr) variant of SLC12A1 (Q13621)
F21Y (p.Phe21Tyr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
F21Y (p.Phe21Tyr) variant details
- p.Phe21Tyr
- TOPMed rs1455832531
- gnomAD rs1455832531
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.63
- MetaLR 0.72
- MetaSVM 0.71
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available