A11D (p.Ala11Asp) variant of HBB (Hemoglobin subunit beta)
A11D (p.Ala11Asp) 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 ANKARA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- rs33947457
- ClinGen CA124726
- cosmic curated COSV10812
- ClinVar RCV000016250
- other
- HEMOGLOBIN ANKARA
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- ESM-1b 1.00
- AlphaMissense 0.36
- ClinVar: other (HEMOGLOBIN ANKARA)
- EBI: Benign (in Ankara)
- UniProt: Benign (in Ankara)
- Structural context available
- Cited in: A new haemoglobin J from Turkey--Hb Ankara (beta10 (A7) Ala-Asp). (PMID 4850241)
- Cited in: Hb Hope [beta 136 (H 14) Gly leads to Asp] in a Japanese family. (PMID 6874374)