S5P (p.Ser5Pro) variant of ADD1 (Alpha-adducin)
S5P (p.Ser5Pro) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- rs768969618
- gnomAD 4-2875928-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.08
- CADD 15.57
- Population evidence available
- Structural context available
- Literature evidence available