N49K (p.Asn49Lys) variant of ATXN1 (Ataxin-1)
N49K (p.Asn49Lys) 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.
N49K (p.Asn49Lys) variant details
- p.Asn49Lys
- ExAC rs778398422
- TOPMed rs778398422
- gnomAD rs778398422
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- AlphaMissense 0.36
- CADD 5.48
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available