P106S (p.Pro106Ser) variant of WWTR1 (Q9GZV5)
P106S (p.Pro106Ser) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P106S (p.Pro106Ser) variant details
- p.Pro106Ser
- rs758233563
- ClinGen CA2662404
- ClinVar RCV004483328
- ExAC rs758233563
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.04
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available