D81G (p.Asp81Gly) variant of C9ORF72 (Q96LT7)
D81G (p.Asp81Gly) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D81G (p.Asp81Gly) variant details
- p.Asp81Gly
- ExAC rs770707789
- gnomAD rs770707789
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.51
- AlphaMissense 0.61
- MetaLR 0.09
- MetaSVM -1.07
- CADD 27.00
- PolyPhen-2 0.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available