P4L (p.Pro4Leu) variant of SCN10A (Q9Y5Y9)
P4L (p.Pro4Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- ExAC rs781089009
- gnomAD rs781089009
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- MetaLR 0.61
- MetaSVM -0.07
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available