L44V (p.Leu44Val) variant of CSRP3 (P50461)
L44V (p.Leu44Val) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- gnomAD rs1485902768
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.91
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available