V37A (p.Val37Ala) variant of ACTC1 (Actin, alpha cardiac muscle 1)
V37A (p.Val37Ala) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- gnomAD rs1156953978
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.93
- MetaLR 0.94
- MetaSVM 1.11
- CADD 32.00
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available