H52H (p.His52His) variant of CSRP3 (P50461)
H52H (p.His52His) in CSRP3 (P50461) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
H52H (p.His52His) variant details
- p.His52His
- gnomAD 11-19188261-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.045
- CADD 0.56
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available