P38S (p.Pro38Ser) variant of USH2A (Usherin)
P38S (p.Pro38Ser) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available