S54N (p.Ser54Asn) variant of CSRP3 (P50461)
S54N (p.Ser54Asn) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- rs1394465819
- gnomAD 11-19186291-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 9.48
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available