P60L (p.Pro60Leu) variant of SCN9A (Q15858)
P60L (p.Pro60Leu) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. 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.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- cosmic curated COSV57624
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- MetaLR 0.99
- MetaSVM 1.00
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available