A41S (p.Ala41Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A41S (p.Ala41Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
A41S (p.Ala41Ser) variant details
- p.Ala41Ser
- TOPMed rs1204059013
- gnomAD rs1204059013
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 4.52
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)