R29L (p.Arg29Leu) variant of DAP3 (P51398)
R29L (p.Arg29Leu) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD 1-155717046-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 2.71
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available