H43R (p.His43Arg) variant of C9ORF72 (Q96LT7)
H43R (p.His43Arg) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H43R (p.His43Arg) variant details
- p.His43Arg
- Ensembl rs1014483798
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.42
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available