K53Q (p.Lys53Gln) variant of SPTBN4 (Q9H254)
K53Q (p.Lys53Gln) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- gnomAD 19-40472778-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- MetaLR 0.35
- MetaSVM -0.34
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available