P71L (p.Pro71Leu) variant of SCN10A (Q9Y5Y9)
P71L (p.Pro71Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P71L (p.Pro71Leu) variant details
- p.Pro71Leu
- ExAC rs772170435
- TOPMed rs772170435
- gnomAD rs772170435
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.80
- MetaLR 0.97
- MetaSVM 1.10
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available