H20L (p.His20Leu) variant of ADD1 (Alpha-adducin)
H20L (p.His20Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H20L (p.His20Leu) variant details
- p.His20Leu
- cosmic curated COSV53271
- gnomAD rs1463303135
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.18
- MetaSVM -0.84
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available