G13C (p.Gly13Cys) variant of LMNA (Prelamin-A/C)
G13C (p.Gly13Cys) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 1-156126219-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.28
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.96
- CADD 18.10
- PolyPhen-2 0.00
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available