V60E (p.Val60Glu) variant of CSRP3 (P50461)
V60E (p.Val60Glu) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V60E (p.Val60Glu) variant details
- p.Val60Glu
- rs775072134
- gnomAD 11-19186222-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.94
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available