L21F (p.Leu21Phe) variant of LMNA (Prelamin-A/C)
L21F (p.Leu21Phe) in LMNA (Prelamin-A/C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- gnomAD 1-156126823-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- CADD 9.18
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available