C37F (p.Cys37Phe) variant of CSRP3 (P50461)
C37F (p.Cys37Phe) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
C37F (p.Cys37Phe) variant details
- p.Cys37Phe
- gnomAD rs1850628850
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available