D45E (p.Asp45Glu) variant of CSRP3 (P50461)
D45E (p.Asp45Glu) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- cosmic curated COSV56390
- gnomAD rs1213174274
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.74
- CADD 22.50
- PolyPhen-2 0.73
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available