A14S (p.Ala14Ser) variant of HBB (Hemoglobin subunit beta)
A14S (p.Ala14Ser) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in J-Lens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- rs766266418
- NCI-TCGA Cosmic COSV5894
- cosmic curated COSV58942
- ExAC rs766266418
- Benign
- in J-Lens
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.79
- CADD 0.00
- EBI: Benign (in J-Lens)
- UniProt: Benign (in J-Lens)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available