N4S (p.Asn4Ser) variant of ATXN1 (Ataxin-1)
N4S (p.Asn4Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- ExAC rs748241978
- TOPMed rs748241978
- gnomAD rs748241978
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.16
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available