N51K (p.Asn51Lys) variant of NOTCH3 (Q9UM47)
N51K (p.Asn51Lys) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
N51K (p.Asn51Lys) variant details
- p.Asn51Lys
- ExAC rs758951375
- TOPMed rs758951375
- gnomAD rs758951375
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.57
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 5.1e-05)
- Structural context available