S49F (p.Ser49Phe) variant of SLC12A1 (Q13621)
S49F (p.Ser49Phe) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- cosmic curated COSV57709
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.56
- MetaLR 0.74
- MetaSVM 0.74
- CADD 25.50
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available