S24I (p.Ser24Ile) variant of SLC12A1 (Q13621)
S24I (p.Ser24Ile) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S24I (p.Ser24Ile) variant details
- p.Ser24Ile
- cosmic curated COSV57710
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.35
- MetaLR 0.47
- MetaSVM -0.46
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available