K17Q (p.Lys17Gln) variant of HBA1 (Hemoglobin subunit alpha)
K17Q (p.Lys17Gln) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K17Q (p.Lys17Gln) variant details
- p.Lys17Gln
- gnomAD 16-172961-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.56
- MetaLR 0.76
- MetaSVM 0.23
- CADD 23.80
- PolyPhen-2 0.31
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available