V31A (p.Val31Ala) variant of SPTA1 (P02549)
V31A (p.Val31Ala) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
V31A (p.Val31Ala) variant details
- p.Val31Ala
- rs773826036
- ClinGen CA1184255
- cosmic curated COSV63752
- ClinVar RCV003138695
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I… (PMID 8136282)
- Cited in: A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis… (PMID 1541680)