N104K (p.Asn104Lys) variant of C9ORF72 (Q96LT7)
N104K (p.Asn104Lys) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N104K (p.Asn104Lys) variant details
- p.Asn104Lys
- gnomAD rs1280803382
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.14
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available