A39V (p.Ala39Val) variant of SPTBN4 (Q9H254)
A39V (p.Ala39Val) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- rs150447798
- ClinGen CA9445251
- cosmic curated COSV58953
- ClinVar RCV000949841
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.04)
- Structural context available