P20A (p.Pro20Ala) variant of LMNA (Prelamin-A/C)
P20A (p.Pro20Ala) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- gnomAD 1-156114976-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.44
- MetaSVM -0.01
- CADD 22.90
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available