T39P (p.Thr39Pro) variant of HBA1 (Hemoglobin subunit alpha)
T39P (p.Thr39Pro) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T39P (p.Thr39Pro) variant details
- p.Thr39Pro
- cosmic curated COSV10509
- Ensembl rs281864504
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.39
- MetaLR 0.57
- MetaSVM -0.26
- CADD 20.70
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 8.1e-05)
- Structural context available