S108N (p.Ser108Asn) variant of C9ORF72 (Q96LT7)
S108N (p.Ser108Asn) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S108N (p.Ser108Asn) variant details
- p.Ser108Asn
- cosmic curated COSV66155
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.09
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available