K48N (p.Lys48Asn) variant of SPTA1 (P02549)
K48N (p.Lys48Asn) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- ExAC rs754692537
- TOPMed rs754692537
- gnomAD rs754692537
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)