S5F (p.Ser5Phe) variant of LMNA (Prelamin-A/C)
S5F (p.Ser5Phe) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- ExAC rs766624427
- gnomAD rs766624427
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 27.50
- PolyPhen-2 0.56
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available