N26S (p.Asn26Ser) variant of CSRP3 (P50461)
N26S (p.Asn26Ser) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N26S (p.Asn26Ser) variant details
- p.Asn26Ser
- rs778512127
- gnomAD 11-19186303-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 9.56
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available
- Literature evidence available