Q33K (p.Gln33Lys) variant of TULP1 (Tubby-related protein 1)
Q33K (p.Gln33Lys) 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.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- ExAC rs746856003
- gnomAD rs746856003
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available