P21A (p.Pro21Ala) variant of SPTBN4 (Q9H254)
P21A (p.Pro21Ala) 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.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- ExAC rs762129766
- TOPMed rs762129766
- gnomAD rs762129766
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 13.60
- PolyPhen-2 0.02
- SIFT 0.71
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available