S24T (p.Ser24Thr) variant of SLC12A1 (Q13621)
S24T (p.Ser24Thr) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S24T (p.Ser24Thr) variant details
- p.Ser24Thr
- gnomAD 15-48207790-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.28
- MetaLR 0.47
- MetaSVM -0.48
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available