S36P (p.Ser36Pro) variant of CRB1 (Protein crumbs homolog 1)
S36P (p.Ser36Pro) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S36P (p.Ser36Pro) variant details
- p.Ser36Pro
- Ensembl rs947867411
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.51
- MetaLR 0.83
- MetaSVM 0.65
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available