P101L (p.Pro101Leu) variant of SLC37A4 (O43826)
P101L (p.Pro101Leu) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, 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 0.61 / 1. The record also includes population frequency data and structural context.
P101L (p.Pro101Leu) variant details
- p.Pro101Leu
- Ensembl rs1555191550
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 20.30
- PolyPhen-2 0.07
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available