T16N (p.Thr16Asn) variant of CSRP3 (P50461)
T16N (p.Thr16Asn) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- gnomAD 11-19192402-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.41
- MetaLR 0.74
- MetaSVM 0.22
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available