G13E (p.Gly13Glu) variant of LMNA (Prelamin-A/C)
G13E (p.Gly13Glu) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- cosmic curated COSV10465
- ExAC rs781684338
- gnomAD rs781684338
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 25.40
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available