P2S (p.Pro2Ser) variant of KCNQ5 (Q9NR82)
P2S (p.Pro2Ser) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- gnomAD 6-72622193-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.58
- CADD 26.70
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available