K44T (p.Lys44Thr) variant of TULP1 (Tubby-related protein 1)
K44T (p.Lys44Thr) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K44T (p.Lys44Thr) variant details
- p.Lys44Thr
- ExAC rs768193103
- TOPMed rs768193103
- gnomAD rs768193103
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available