L7P (p.Leu7Pro) variant of ERBB3 (P21860)
L7P (p.Leu7Pro) in ERBB3 (P21860) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD rs1173594365
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.30
- MetaLR 0.48
- MetaSVM 0.03
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the East Asian population (allele frequency 5.2e-05)
- Structural context available