P14S (p.Pro14Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
P14S (p.Pro14Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- rs147059670
- ClinGen CA7231561
- cosmic curated COSV67630
- ClinVar RCV001726916
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- MetaLR 0.17
- MetaSVM -0.86
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available