N10K (p.Asn10Lys) variant of SPTBN4 (Q9H254)
N10K (p.Asn10Lys) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N10K (p.Asn10Lys) variant details
- p.Asn10Lys
- gnomAD rs2079898188
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 20.40
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available