K53N (p.Lys53Asn) variant of SPTBN4 (Q9H254)
K53N (p.Lys53Asn) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K53N (p.Lys53Asn) variant details
- p.Lys53Asn
- gnomAD 19-40472780-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.45
- MetaSVM 0.00
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available