S22P (p.Ser22Pro) variant of LMNA (Prelamin-A/C)
S22P (p.Ser22Pro) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- gnomAD 1-156114982-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.74
- MetaSVM 0.63
- CADD 29.70
- Population evidence available
- Structural context available
- Literature evidence available