G128S (p.Gly128Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
G128S (p.Gly128Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G128S (p.Gly128Ser) variant details
- p.Gly128Ser
- cosmic curated COSV62184
- ExAC rs768583987
- gnomAD rs768583987
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available