S44R (p.Ser44Arg) variant of DAP3 (P51398)
S44R (p.Ser44Arg) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- ExAC rs757038621
- gnomAD rs757038621
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 5.35
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available