R103Q (p.Arg103Gln) variant of TULP1 (Tubby-related protein 1)
R103Q (p.Arg103Gln) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- cosmic curated COSV57692
- ExAC rs758811222
- TOPMed rs758811222
- gnomAD rs758811222
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.80
- PolyPhen-2 0.57
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available