H136Q (p.His136Gln) variant of SPTB (Spectrin beta chain, erythrocytic)
H136Q (p.His136Gln) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
H136Q (p.His136Gln) variant details
- p.His136Gln
- 1000Genomes rs11623956
- ESP rs11623956
- ExAC rs11623956
- TOPMed rs11623956
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- MetaLR 0.78
- MetaSVM 0.43
- CADD 13.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Population evidence available