A35T (p.Ala35Thr) variant of SLC12A3 (P55017)
A35T (p.Ala35Thr) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD 16-56865338-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- MetaLR 0.32
- MetaSVM -0.54
- CADD 4.81
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available