V108L (p.Val108Leu) variant of TULP1 (Tubby-related protein 1)
V108L (p.Val108Leu) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V108L (p.Val108Leu) variant details
- p.Val108Leu
- cosmic curated COSV57692
- ESP rs150453963
- ExAC rs150453963
- TOPMed rs150453963
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available