S60P (p.Ser60Pro) variant of NOTCH3 (Q9UM47)
S60P (p.Ser60Pro) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S60P (p.Ser60Pro) variant details
- p.Ser60Pro
- ExAC rs750242461
- gnomAD rs750242461
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.6e-05)
- Structural context available