A11V (p.Ala11Val) variant of HBB (Hemoglobin subunit beta)
A11V (p.Ala11Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN IRAQ-HALABJA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs33947457
- ClinGen CA125466
- cosmic curated COSV10009
- ClinVar RCV000016838
- other
- HEMOGLOBIN IRAQ-HALABJA
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.46
- CADD 5.65
- ClinVar: other (HEMOGLOBIN IRAQ-HALABJA)
- EBI: Benign (in Iraq-Halabja)
- UniProt: Benign (in Iraq-Halabja)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb… (PMID 10398311)
- Cited in: Hemoglobin J Iran alpha 2 beta 2 77 (EF1) his----Asp in a Russian-Armenian family. (PMID 2943700)