T48A (p.Thr48Ala) variant of CSRP3 (P50461)
T48A (p.Thr48Ala) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- gnomAD 11-19188275-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.83
- MetaLR 0.83
- MetaSVM 0.78
- CADD 24.60
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available