Q51R (p.Gln51Arg) variant of C9ORF72 (Q96LT7)
Q51R (p.Gln51Arg) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- ExAC rs761388023
- gnomAD rs761388023
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.05
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available