S6P (p.Ser6Pro) variant of SLC12A1 (Q13621)
S6P (p.Ser6Pro) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- gnomAD rs1232353451
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- MetaLR 0.40
- MetaSVM -0.68
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available