L60F (p.Leu60Phe) variant of SLC34A3 (Q8N130)
L60F (p.Leu60Phe) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- gnomAD rs1234145400
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- MetaLR 0.10
- MetaSVM -1.01
- CADD 17.10
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available