R71Q (p.Arg71Gln) variant of TULP1 (Tubby-related protein 1)
R71Q (p.Arg71Gln) in TULP1 (Tubby-related protein 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 and structural context.
R71Q (p.Arg71Gln) variant details
- p.Arg71Gln
- gnomAD rs1359111633
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available