D133N (p.Asp133Asn) variant of C9ORF72 (Q96LT7)
D133N (p.Asp133Asn) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D133N (p.Asp133Asn) variant details
- p.Asp133Asn
- ExAC rs749708068
- gnomAD rs749708068
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.28
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available