S82L (p.Ser82Leu) variant of RRAD (GTP-binding protein RAD)
S82L (p.Ser82Leu) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S82L (p.Ser82Leu) variant details
- p.Ser82Leu
- TOPMed rs1340283524
- gnomAD rs1340283524
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available