P102R (p.Pro102Arg) variant of TULP1 (Tubby-related protein 1)
P102R (p.Pro102Arg) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P102R (p.Pro102Arg) variant details
- p.Pro102Arg
- ExAC rs770773936
- gnomAD rs770773936
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available