S75P (p.Ser75Pro) variant of TULP1 (Tubby-related protein 1)
S75P (p.Ser75Pro) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S75P (p.Ser75Pro) variant details
- p.Ser75Pro
- TOPMed rs1761209122
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available