N74S (p.Asn74Ser) variant of SPTA1 (P02549)
N74S (p.Asn74Ser) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
N74S (p.Asn74Ser) variant details
- p.Asn74Ser
- ExAC rs762849672
- TOPMed rs762849672
- gnomAD rs762849672
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the HGDP:KALASH population (allele frequency 0.024)