H19H (p.His19His) variant of CSRP3 (P50461)
H19H (p.His19His) in CSRP3 (P50461) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H19H (p.His19His) variant details
- p.His19His
- rs1310682798
- gnomAD 11-19192392-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0882
- CADD 1.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available