A50A (p.Ala50Ala) variant of CSRP3 (P50461)
A50A (p.Ala50Ala) in CSRP3 (P50461) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A50A (p.Ala50Ala) variant details
- p.Ala50Ala
- rs7124801
- gnomAD 11-19188267-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0409
- CADD 0.07
- SIFT 0.00
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available