D5V (p.Asp5Val) variant of TULP1 (Tubby-related protein 1)
D5V (p.Asp5Val) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D5V (p.Asp5Val) variant details
- p.Asp5Val
- TOPMed rs1054313189
- gnomAD rs1054313189
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available