P6R (p.Pro6Arg) variant of NOTCH2 (Q04721)
P6R (p.Pro6Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- ExAC rs782374128
- gnomAD rs782374128
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available