I48V (p.Ile48Val) variant of DAP3 (P51398)
I48V (p.Ile48Val) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- gnomAD rs1185138220
- Missense
- Variant Prioritization Score for Impact Estimate 0.0604
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available