S2G (p.Ser2Gly) variant of KRT3 (Keratin, type II cytoskeletal 3)
S2G (p.Ser2Gly) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- TOPMed rs1267285603
- gnomAD rs1267285603
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.28
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available