N104S (p.Asn104Ser) variant of C9ORF72 (Q96LT7)
N104S (p.Asn104Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N104S (p.Asn104Ser) variant details
- p.Asn104Ser
- TOPMed rs1315702993
- gnomAD rs1315702993
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.06
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available