S82I (p.Ser82Ile) variant of CRB1 (Protein crumbs homolog 1)
S82I (p.Ser82Ile) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S82I (p.Ser82Ile) variant details
- p.Ser82Ile
- gnomAD 1-197328596-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.22
- MetaLR 0.50
- MetaSVM -0.49
- CADD 9.05
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available