A14P (p.Ala14Pro) variant of HBA1 (Hemoglobin subunit alpha)
A14P (p.Ala14Pro) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in Ravenscourt Park. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- rs35331909
- UniProt VAR 038150
- ExAC rs35331909
- TOPMed rs35331909
- Benign
- in Ravenscourt Park
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.58
- MetaLR 0.66
- MetaSVM -0.26
- CADD 15.10
- PolyPhen-2 0.07
- SIFT 0.10
- EBI: Benign (in Ravenscourt Park)
- UniProt: Benign (in Ravenscourt Park)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available