L51P (p.Leu51Pro) variant of RRAD (GTP-binding protein RAD)
L51P (p.Leu51Pro) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L51P (p.Leu51Pro) variant details
- p.Leu51Pro
- 1000Genomes rs538436179
- TOPMed rs538436179
- gnomAD rs538436179
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.24
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available