A38S (p.Ala38Ser) variant of SPTBN4 (Q9H254)
A38S (p.Ala38Ser) in SPTBN4 (Q9H254) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- 1000Genomes rs73931308
- ESP rs73931308
- ExAC rs73931308
- TOPMed rs73931308
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 10.20
- PolyPhen-2 0.12
- SIFT 0.27
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available