P62R (p.Pro62Arg) variant of TULP1 (Tubby-related protein 1)
P62R (p.Pro62Arg) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TULP1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P62R (p.Pro62Arg) variant details
- p.Pro62Arg
- gnomAD rs1219783631
- Uncertain significance
- TULP1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (TULP1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available