T7R (p.Thr7Arg) variant of DAP3 (P51398)
T7R (p.Thr7Arg) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- gnomAD 1-155709799-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available