P6T (p.Pro6Thr) variant of HBD (Hemoglobin subunit delta)
P6T (p.Pro6Thr) in HBD (Hemoglobin subunit delta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 11-5234418-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.32
- MetaSVM -0.79
- CADD 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available