S10F (p.Ser10Phe) variant of SLC12A2 (P55011)
S10F (p.Ser10Phe) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- gnomAD 5-128083983-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.20
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available
- Literature evidence available