S10C (p.Ser10Cys) variant of HBB (Hemoglobin subunit beta)
S10C (p.Ser10Cys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- rs33918131
- ClinGen CA125110
- ClinVar RCV000016556
- ClinVar RCV000508345
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.54
- MetaSVM -0.46
- CADD 2.07
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign (in Porto Alegre)
- UniProt: Benign (in Porto Alegre)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Asymetric tetramer in a second occurrence of hemoglobin Porto Alegre alpha A2betaAbeta9Ser replaced by Cys. (PMID 1052181)
- Cited in: Permanence or change? The meaning of genetic variation. (PMID 10805790)