S52R (p.Ser52Arg) variant of VCL (Vinculin)
S52R (p.Ser52Arg) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S52R (p.Ser52Arg) variant details
- p.Ser52Arg
- gnomAD 10-73998363-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.28
- CADD 24.90
- PolyPhen-2 0.76
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available