S22G (p.Ser22Gly) variant of TULP1 (Tubby-related protein 1)
S22G (p.Ser22Gly) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- ExAC rs773837553
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 7.92
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available