R20L (p.Arg20Leu) variant of DAP3 (P51398)
R20L (p.Arg20Leu) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- gnomAD 1-155717019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.01
- ESM-1b 0.72
- AlphaMissense 0.10
- CADD 3.89
- PolyPhen-2 0.09
- SIFT 0.63
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available