P100L (p.Pro100Leu) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P100L (p.Pro100Leu) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P100L (p.Pro100Leu) variant details
- p.Pro100Leu
- rs876661195
- ClinGen CA10577511
- ClinVar RCV000218970
- gnomAD rs876661195
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.82
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available