A114V (p.Ala114Val) variant of TULP1 (Tubby-related protein 1)
A114V (p.Ala114Val) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A114V (p.Ala114Val) variant details
- p.Ala114Val
- cosmic curated COSV10585
- ExAC rs766451583
- gnomAD rs766451583
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available