K32Q (p.Lys32Gln) variant of TULP1 (Tubby-related protein 1)
K32Q (p.Lys32Gln) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K32Q (p.Lys32Gln) variant details
- p.Lys32Gln
- Ensembl rs1761234816
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available