S2N (p.Ser2Asn) variant of KRT3 (Keratin, type II cytoskeletal 3)
S2N (p.Ser2Asn) in KRT3 (Keratin, type II cytoskeletal 3) 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 and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- ExAC rs770789253
- gnomAD rs770789253
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.19
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available