V2A (p.Val2Ala) variant of HBD (Hemoglobin subunit delta)
V2A (p.Val2Ala) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) NIIGATA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- rs34991152
- ClinGen CA124680
- ClinVar RCV000016220
- UniProt VAR 003096
- other
- HEMOGLOBIN A(2) NIIGATA
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.64
- MetaSVM -0.03
- CADD 22.00
- ClinVar: other (HEMOGLOBIN A(2) NIIGATA)
- EBI: Benign (in Niigata)
- UniProt: Benign (in Niigata)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hb A2-Niigata [delta 1(NA1)Val----Ala]: a new delta chain variant found in the Japanese population. (PMID 1787103)