N153S (p.Asn153Ser) variant of C9ORF72 (Q96LT7)
N153S (p.Asn153Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N153S (p.Asn153Ser) variant details
- p.Asn153Ser
- gnomAD rs1424359653
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.08
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available