Q151P (p.Gln151Pro) variant of C9ORF72 (Q96LT7)
Q151P (p.Gln151Pro) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q151P (p.Gln151Pro) variant details
- p.Gln151Pro
- ExAC rs768913769
- gnomAD rs768913769
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.17
- AlphaMissense 0.61
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.40
- PolyPhen-2 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available