L52P (p.Leu52Pro) variant of ERBB3 (P21860)
L52P (p.Leu52Pro) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L52P (p.Leu52Pro) variant details
- p.Leu52Pro
- TOPMed rs1485348787
- gnomAD rs1485348787
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.16
- CADD 23.40
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available