N24T (p.Asn24Thr) variant of SPINK5 (Q9NQ38)
N24T (p.Asn24Thr) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N24T (p.Asn24Thr) variant details
- p.Asn24Thr
- gnomAD 5-148065362-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.00
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available