S8N (p.Ser8Asn) variant of ATXN1 (Ataxin-1)
S8N (p.Ser8Asn) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- cosmic curated COSV55208
- gnomAD rs1316779489
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available