A83T (p.Ala83Thr) variant of CRB1 (Protein crumbs homolog 1)
A83T (p.Ala83Thr) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- cosmic curated COSV10747
- TOPMed rs1658661600
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.64
- MetaLR 0.86
- MetaSVM 0.89
- CADD 23.40
- PolyPhen-2 0.84
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available