R12S (p.Arg12Ser) variant of DAP3 (P51398)
R12S (p.Arg12Ser) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD 1-155709815-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available