L48S (p.Leu48Ser) variant of SPTB (Spectrin beta chain, erythrocytic)
L48S (p.Leu48Ser) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
L48S (p.Leu48Ser) variant details
- p.Leu48Ser
- cosmic curated COSV67634
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- MetaLR 0.50
- MetaSVM 0.15
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available