P72S (p.Pro72Ser) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P72S (p.Pro72Ser) 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 0.91 / 1. The record also includes structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- rs2140432138
- ClinGen CA391631915
- ClinVar RCV001555263
- Ensembl rs2140432138
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.98
- EVE 0.70
- MutPred 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available