Y67C (p.Tyr67Cys) variant of SCN10A (Nav1.8)
Y67C (p.Tyr67Cys) in SCN10A (Nav1.8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y67C (p.Tyr67Cys) variant details
- p.Tyr67Cys
- gnomAD rs1308883210
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.70
- MetaLR 0.94
- MetaSVM 1.07
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available