S3L (p.Ser3Leu) variant of SPTB (Spectrin beta chain, erythrocytic)
S3L (p.Ser3Leu) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- cosmic curated COSV10532
- TOPMed rs1367842585
- gnomAD rs1367842585
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- MetaLR 0.35
- MetaSVM -0.38
- CADD 27.00
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available