S46I (p.Ser46Ile) variant of CSRP3 (P50461)
S46I (p.Ser46Ile) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S46I (p.Ser46Ile) variant details
- p.Ser46Ile
- gnomAD 11-19188280-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.83
- MetaLR 0.86
- MetaSVM 0.89
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available