T10N (p.Thr10Asn) variant of SCN5A (Q14524)
T10N (p.Thr10Asn) in SCN5A (Q14524) is a missense change. 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.
T10N (p.Thr10Asn) variant details
- p.Thr10Asn
- cosmic curated COSV60067
- ExAC rs753443631
- TOPMed rs753443631
- gnomAD rs753443631
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.51
- CADD 22.60
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available