N63S (p.Asn63Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
N63S (p.Asn63Ser) in COL11A1 (Collagen alpha-1(XI) chain) 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.
N63S (p.Asn63Ser) variant details
- p.Asn63Ser
- ExAC rs757797166
- gnomAD rs757797166
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available