T10N (p.Thr10Asn) variant of LMNA (Prelamin-A/C)
T10N (p.Thr10Asn) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T10N (p.Thr10Asn) variant details
- p.Thr10Asn
- gnomAD 1-156114947-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.28
- MetaSVM -0.33
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available