P53L (p.Pro53Leu) variant of RRAD (GTP-binding protein RAD)
P53L (p.Pro53Leu) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- TOPMed rs1226479392
- gnomAD rs1226479392
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available