T47R (p.Thr47Arg) variant of CSRP3 (P50461)
T47R (p.Thr47Arg) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T47R (p.Thr47Arg) variant details
- p.Thr47Arg
- gnomAD 11-19188277-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.83
- MetaLR 0.85
- MetaSVM 0.84
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available