A44P (p.Ala44Pro) variant of SPTBN4 (Q9H254)
A44P (p.Ala44Pro) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A44P (p.Ala44Pro) variant details
- p.Ala44Pro
- Ensembl rs2079900660
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available