Q24R (p.Gln24Arg) variant of CSRP3 (P50461)
Q24R (p.Gln24Arg) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD 11-19192378-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.66
- MetaLR 0.83
- MetaSVM 0.77
- CADD 24.40
- PolyPhen-2 0.72
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available