L44S (p.Leu44Ser) variant of CSRP3 (P50461)
L44S (p.Leu44Ser) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L44S (p.Leu44Ser) variant details
- p.Leu44Ser
- rs779874019
- gnomAD 11-19186324-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 6.45
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available