L4P (p.Leu4Pro) variant of SLC12A3 (P55017)
L4P (p.Leu4Pro) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 16-56865246-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- MetaLR 0.56
- MetaSVM -0.01
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available