S17I (p.Ser17Ile) variant of LMNA (Prelamin-A/C)
S17I (p.Ser17Ile) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S17I (p.Ser17Ile) variant details
- p.Ser17Ile
- cosmic curated COSV10590
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.26
- ESM-1b 0.75
- AlphaMissense 0.25
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available