P38L (p.Pro38Leu) variant of HBA1 (Hemoglobin subunit alpha)
P38L (p.Pro38Leu) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- Ensembl rs35776155
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.50
- PolyPhen-2 0.66
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Hb Manawatu [alpha 37(C2)Pro-->Leu]: a new mildly unstable mutation at an invariant proline residue. (PMID 12484634)