R41K (p.Arg41Lys) variant of HBD (Hemoglobin subunit delta)
R41K (p.Arg41Lys) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R41K (p.Arg41Lys) variant details
- p.Arg41Lys
- cosmic curated COSV53082
- TOPMed rs1240307704
- gnomAD rs1240307704
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.75
- ESM-1b 0.02
- AlphaMissense 0.76
- MetaLR 0.82
- MetaSVM 0.75
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available