H137P (p.His137Pro) variant of C9ORF72 (Q96LT7)
H137P (p.His137Pro) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H137P (p.His137Pro) variant details
- p.His137Pro
- ExAC rs753158467
- gnomAD rs753158467
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.42
- CADD 23.90
- PolyPhen-2 0.53
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available