P100S (p.Pro100Ser) variant of RRAD (GTP-binding protein RAD)
P100S (p.Pro100Ser) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P100S (p.Pro100Ser) variant details
- p.Pro100Ser
- TOPMed rs1962971542
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 12.30
- PolyPhen-2 0.06
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available