Q3K (p.Gln3Lys) variant of SPTA1 (P02549)
Q3K (p.Gln3Lys) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- ExAC rs764788757
- gnomAD rs764788757
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the South Asian population (allele frequency 3.5e-05)