K148N (p.Lys148Asn) variant of C9ORF72 (Q96LT7)
K148N (p.Lys148Asn) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K148N (p.Lys148Asn) variant details
- p.Lys148Asn
- gnomAD rs1474620143
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.25
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available